Incidental Mutation 'R1613:Ccdc146'
ID |
176923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc146
|
Ensembl Gene |
ENSMUSG00000064280 |
Gene Name |
coiled-coil domain containing 146 |
Synonyms |
4930528G09Rik |
MMRRC Submission |
039650-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1613 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21499522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 887
(I887F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000115245]
[ENSMUST00000198014]
[ENSMUST00000198930]
|
AlphaFold |
E9Q9F7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934
Domain | Start | End | E-Value | Type |
low complexity region
|
386 |
398 |
N/A |
INTRINSIC |
Pfam:GSAP-16
|
646 |
753 |
6.8e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115245
AA Change: I887F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280 AA Change: I887F
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
Meta Mutation Damage Score |
0.1055 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
82% (69/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Aldh3a1 |
A |
T |
11: 61,105,377 (GRCm39) |
D161V |
probably damaging |
Het |
Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
Amfr |
T |
A |
8: 94,725,854 (GRCm39) |
M176L |
probably benign |
Het |
Amigo1 |
A |
T |
3: 108,095,536 (GRCm39) |
E345V |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,151,118 (GRCm39) |
Y1064C |
probably damaging |
Het |
Brd7 |
A |
T |
8: 89,073,578 (GRCm39) |
C271S |
probably benign |
Het |
Bub1b |
T |
A |
2: 118,470,222 (GRCm39) |
|
probably null |
Het |
Ceacam14 |
T |
C |
7: 17,547,973 (GRCm39) |
|
probably benign |
Het |
Cntn1 |
T |
A |
15: 92,143,871 (GRCm39) |
V278E |
possibly damaging |
Het |
Col6a6 |
A |
C |
9: 105,609,410 (GRCm39) |
|
probably null |
Het |
Cspp1 |
C |
T |
1: 10,203,466 (GRCm39) |
R1016C |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,527,455 (GRCm39) |
Y267C |
probably damaging |
Het |
Cyp2c67 |
C |
T |
19: 39,614,643 (GRCm39) |
V295I |
probably benign |
Het |
Cyp2d40 |
T |
C |
15: 82,645,640 (GRCm39) |
T122A |
unknown |
Het |
Dennd10 |
T |
A |
19: 60,810,763 (GRCm39) |
V171D |
possibly damaging |
Het |
Dmxl2 |
A |
G |
9: 54,289,311 (GRCm39) |
I2541T |
probably benign |
Het |
Eif3e |
G |
A |
15: 43,113,620 (GRCm39) |
A438V |
possibly damaging |
Het |
Fam178b |
C |
A |
1: 36,639,273 (GRCm39) |
W342L |
probably benign |
Het |
Fam78a |
G |
T |
2: 31,959,581 (GRCm39) |
N176K |
probably damaging |
Het |
Ghrhr |
A |
T |
6: 55,356,682 (GRCm39) |
K93M |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,953,002 (GRCm39) |
|
probably null |
Het |
Gm1553 |
G |
A |
10: 82,328,430 (GRCm39) |
|
probably benign |
Het |
Gm5885 |
G |
A |
6: 133,508,205 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
G |
A |
13: 50,056,474 (GRCm39) |
|
noncoding transcript |
Het |
Hoxc6 |
C |
T |
15: 102,918,017 (GRCm39) |
|
probably benign |
Het |
Ino80 |
T |
C |
2: 119,223,348 (GRCm39) |
T1189A |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,418,205 (GRCm39) |
E55G |
probably damaging |
Het |
Kcnh2 |
G |
A |
5: 24,527,760 (GRCm39) |
|
probably benign |
Het |
Lama1 |
G |
A |
17: 68,114,918 (GRCm39) |
G2356S |
probably benign |
Het |
Mdfic |
T |
A |
6: 15,799,589 (GRCm39) |
|
probably null |
Het |
Me3 |
T |
C |
7: 89,435,628 (GRCm39) |
|
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,170,338 (GRCm39) |
D258G |
probably damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,556 (GRCm39) |
D145G |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,519,105 (GRCm39) |
K169R |
probably damaging |
Het |
Or10j3b |
C |
T |
1: 173,043,434 (GRCm39) |
T72I |
probably benign |
Het |
Or1ad1 |
T |
A |
11: 50,876,045 (GRCm39) |
N172K |
probably damaging |
Het |
Or1j20 |
A |
C |
2: 36,760,405 (GRCm39) |
I276L |
possibly damaging |
Het |
Or2y1e |
A |
G |
11: 49,218,520 (GRCm39) |
Y94C |
probably damaging |
Het |
Or4a67 |
T |
C |
2: 88,598,149 (GRCm39) |
N170S |
probably damaging |
Het |
Or4k1 |
A |
C |
14: 50,377,751 (GRCm39) |
L115R |
probably damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,407 (GRCm39) |
L200Q |
probably damaging |
Het |
P4ha3 |
A |
T |
7: 99,962,457 (GRCm39) |
D405V |
possibly damaging |
Het |
Palmd |
T |
C |
3: 116,717,153 (GRCm39) |
D448G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,560,059 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
T |
C |
7: 141,020,690 (GRCm39) |
E469G |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,684,737 (GRCm39) |
D875G |
possibly damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,050,740 (GRCm39) |
L886P |
probably damaging |
Het |
Scrib |
G |
A |
15: 75,920,391 (GRCm39) |
R1454C |
probably damaging |
Het |
Slc24a1 |
A |
G |
9: 64,855,978 (GRCm39) |
S310P |
unknown |
Het |
Slc44a5 |
A |
G |
3: 153,963,351 (GRCm39) |
|
probably null |
Het |
Snx4 |
T |
G |
16: 33,106,416 (GRCm39) |
M283R |
probably damaging |
Het |
Snx7 |
A |
T |
3: 117,623,222 (GRCm39) |
|
probably benign |
Het |
Stk19 |
A |
T |
17: 35,043,574 (GRCm39) |
L212H |
probably damaging |
Het |
Sult2a4 |
T |
C |
7: 13,723,420 (GRCm39) |
K32E |
probably damaging |
Het |
Tfrc |
T |
A |
16: 32,442,193 (GRCm39) |
Y473N |
probably damaging |
Het |
Tlr2 |
C |
G |
3: 83,744,660 (GRCm39) |
L474F |
probably damaging |
Het |
Tnfrsf4 |
T |
A |
4: 156,100,619 (GRCm39) |
F213I |
probably benign |
Het |
Trim9 |
A |
T |
12: 70,295,169 (GRCm39) |
I651N |
probably damaging |
Het |
Vmn1r84 |
T |
A |
7: 12,096,460 (GRCm39) |
I78L |
possibly damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,460,356 (GRCm39) |
Y561H |
probably damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,660,901 (GRCm39) |
|
probably benign |
Het |
Zfp11 |
T |
C |
5: 129,735,431 (GRCm39) |
N10S |
probably benign |
Het |
Zfp81 |
A |
T |
17: 33,553,757 (GRCm39) |
H352Q |
probably damaging |
Het |
Zscan5b |
T |
A |
7: 6,233,374 (GRCm39) |
L66Q |
probably damaging |
Het |
|
Other mutations in Ccdc146 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Ccdc146
|
APN |
5 |
21,506,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01066:Ccdc146
|
APN |
5 |
21,524,540 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01399:Ccdc146
|
APN |
5 |
21,499,611 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01866:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01868:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01869:Ccdc146
|
APN |
5 |
21,521,837 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02213:Ccdc146
|
APN |
5 |
21,521,902 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02338:Ccdc146
|
APN |
5 |
21,524,604 (GRCm39) |
unclassified |
probably benign |
|
IGL02553:Ccdc146
|
APN |
5 |
21,502,631 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02838:Ccdc146
|
APN |
5 |
21,502,567 (GRCm39) |
missense |
probably benign |
0.01 |
Starcraft
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0055:Ccdc146
|
UTSW |
5 |
21,502,004 (GRCm39) |
splice site |
probably null |
|
R0115:Ccdc146
|
UTSW |
5 |
21,527,754 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0373:Ccdc146
|
UTSW |
5 |
21,524,543 (GRCm39) |
missense |
probably benign |
0.00 |
R1251:Ccdc146
|
UTSW |
5 |
21,498,370 (GRCm39) |
missense |
probably benign |
0.00 |
R1355:Ccdc146
|
UTSW |
5 |
21,526,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1556:Ccdc146
|
UTSW |
5 |
21,535,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Ccdc146
|
UTSW |
5 |
21,506,288 (GRCm39) |
missense |
probably benign |
0.01 |
R2271:Ccdc146
|
UTSW |
5 |
21,604,719 (GRCm39) |
missense |
probably benign |
0.15 |
R2329:Ccdc146
|
UTSW |
5 |
21,513,610 (GRCm39) |
critical splice donor site |
probably null |
|
R2518:Ccdc146
|
UTSW |
5 |
21,510,526 (GRCm39) |
missense |
probably benign |
|
R2680:Ccdc146
|
UTSW |
5 |
21,510,267 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3116:Ccdc146
|
UTSW |
5 |
21,521,953 (GRCm39) |
missense |
probably benign |
0.02 |
R3121:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3122:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3159:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
R3436:Ccdc146
|
UTSW |
5 |
21,502,003 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4043:Ccdc146
|
UTSW |
5 |
21,521,941 (GRCm39) |
missense |
probably benign |
0.14 |
R4226:Ccdc146
|
UTSW |
5 |
21,527,756 (GRCm39) |
missense |
probably benign |
0.09 |
R4493:Ccdc146
|
UTSW |
5 |
21,508,191 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5013:Ccdc146
|
UTSW |
5 |
21,538,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Ccdc146
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
R5051:Ccdc146
|
UTSW |
5 |
21,508,081 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5384:Ccdc146
|
UTSW |
5 |
21,513,711 (GRCm39) |
missense |
probably benign |
0.37 |
R5532:Ccdc146
|
UTSW |
5 |
21,510,329 (GRCm39) |
missense |
probably benign |
0.02 |
R5906:Ccdc146
|
UTSW |
5 |
21,506,350 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5927:Ccdc146
|
UTSW |
5 |
21,513,619 (GRCm39) |
nonsense |
probably null |
|
R5951:Ccdc146
|
UTSW |
5 |
21,524,577 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5978:Ccdc146
|
UTSW |
5 |
21,521,966 (GRCm39) |
missense |
probably benign |
0.02 |
R5990:Ccdc146
|
UTSW |
5 |
21,523,180 (GRCm39) |
missense |
probably benign |
0.41 |
R6123:Ccdc146
|
UTSW |
5 |
21,510,595 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6217:Ccdc146
|
UTSW |
5 |
21,522,900 (GRCm39) |
splice site |
probably null |
|
R6276:Ccdc146
|
UTSW |
5 |
21,506,338 (GRCm39) |
missense |
probably damaging |
0.98 |
R6665:Ccdc146
|
UTSW |
5 |
21,508,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7077:Ccdc146
|
UTSW |
5 |
21,510,272 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7204:Ccdc146
|
UTSW |
5 |
21,513,624 (GRCm39) |
missense |
probably benign |
0.22 |
R7336:Ccdc146
|
UTSW |
5 |
21,508,110 (GRCm39) |
missense |
probably benign |
0.41 |
R7608:Ccdc146
|
UTSW |
5 |
21,506,450 (GRCm39) |
missense |
probably benign |
0.02 |
R8310:Ccdc146
|
UTSW |
5 |
21,506,469 (GRCm39) |
intron |
probably benign |
|
R8427:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
R8927:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R8957:Ccdc146
|
UTSW |
5 |
21,514,585 (GRCm39) |
intron |
probably benign |
|
R9003:Ccdc146
|
UTSW |
5 |
21,508,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9252:Ccdc146
|
UTSW |
5 |
21,502,023 (GRCm39) |
missense |
probably damaging |
0.98 |
R9425:Ccdc146
|
UTSW |
5 |
21,508,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R9612:Ccdc146
|
UTSW |
5 |
21,535,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R9774:Ccdc146
|
UTSW |
5 |
21,506,247 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAACCATGCCAGTTCAGGGTATGAC -3'
(R):5'- ACTAAACCGTGGGCTCCTCGTTTC -3'
Sequencing Primer
(F):5'- CCATTCAGACTATGCCTGTTAGAG -3'
(R):5'- GGCTCCTCGTTTCTAGATGAATAG -3'
|
Posted On |
2014-04-24 |